Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.973 37 2002 2019
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.100 0.955 22 2002 2018
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 1.000 20 2002 2018
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.100 0.917 12 2002 2019
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.100 0.900 10 2002 2017
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.090 0.889 9 2002 2015
dbSNP: rs144848
rs144848
BRCA2
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.060 1.000 6 2002 2017
dbSNP: rs1326656542
rs1326656542
LIG4
10 0.776 0.280 13 108210293 missense variant A/T snv 4.0E-06 0.030 1.000 3 2002 2014
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 1.000 2 2002 2006
dbSNP: rs7439366
rs7439366
UGT2B7
16 0.752 0.320 4 69098620 missense variant T/C snv 0.56 0.57 0.020 1.000 2 2002 2018
dbSNP: rs1057520247
rs1057520247
BRCA2
5 0.882 0.200 13 32326591 synonymous variant C/T snv 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs11547328
rs11547328
CDK4
27 0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1271401320
rs1271401320
IFNA1
3 1.000 0.120 9 21440749 missense variant A/G snv 0.010 1.000 1 2002 2002
dbSNP: rs1314386070
rs1314386070
DECR1
9 0.827 0.240 8 90042766 missense variant T/C snv 1.4E-05 0.010 1.000 1 2002 2002
dbSNP: rs200111236
rs200111236
G6PD
5 0.882 0.200 X 154534463 missense variant G/A;C snv 2.8E-04; 5.5E-06 0.010 1.000 1 2002 2002
dbSNP: rs374019283
rs374019283
FANCD2
5 0.882 0.200 3 10039759 synonymous variant T/C snv 4.0E-05 2.2E-04 0.010 1.000 1 2002 2002
dbSNP: rs386656364
rs386656364
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A9
8 0.807 0.160 2 233682328 missense variant CG/AA mnv 0.010 1.000 1 2002 2002
dbSNP: rs386675647
rs386675647
UGT2B7
10 0.790 0.240 4 69098619 missense variant AT/TC mnv 0.010 1.000 1 2002 2002
dbSNP: rs560209396
rs560209396
ADAM9 ; TM2D2
2 8 38996229 missense variant T/C snv 8.0E-06 0.010 < 0.001 1 2002 2002
dbSNP: rs572409834
rs572409834
ALDH9A1 ; LOC440700
4 0.925 0.120 1 165698515 missense variant C/T snv 4.2E-06 0.010 1.000 1 2002 2002
dbSNP: rs746702110
rs746702110
OGG1
38 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 0.010 1.000 1 2002 2002
dbSNP: rs747091571
rs747091571
OGG1 ; CAMK1
4 0.925 0.080 3 9765977 missense variant C/A snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs749475591
rs749475591
PSMD2
2 3 184302007 missense variant G/C snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs766295553
rs766295553
XPNPEP3 ; DNAJB7
2 22 40861433 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs769013954
rs769013954
ALDH9A1
4 0.925 0.120 1 165682137 missense variant A/G snv 2.0E-05 0.010 1.000 1 2002 2002